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    PSPHP1 phosphoserine phosphatase pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 8781, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PSPHP1provided by HGNC
    Official Full Name
    phosphoserine phosphatase pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:9578
    See related
    Ensembl:ENSG00000226278 MIM:604239; AllianceGenome:HGNC:9578
    Gene type
    pseudo
    RefSeq status
    INFERRED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CO9; PSPHL
    Summary
    This gene is significantly upregulated in Fanconi's anemia fibroblasts but downregulated or absent in fibroblasts from normal donors. It is also highly expressed in FA B-cells of complementation group A. [provided by RefSeq, Jul 2008]
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    Genomic context

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    See PSPHP1 in Genome Data Viewer
    Location:
    7p11.2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (55764797..55773683)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (55925055..55933941)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (55832490..55841376)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene putative uncharacterized protein FLJ44672 Neighboring gene putative uncharacterized protein FLJ44672 Neighboring gene uncharacterized LOC102723656 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:55842651-55843150 Neighboring gene RNA, U6 small nuclear 1126, pseudogene Neighboring gene septin 14 Neighboring gene capicua transcriptional repressor pseudogene 12

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. PSPHL and breast cancer in African American women: causative gene or population stratification? Rummel S, et al. BMC Genet, 2014 Mar 20. PMID 24650299, Free PMC Article
    2. Identification of a novel c-DNA overexpressed in Fanconi's anemia fibroblasts partially homologous to a putative L-3-phosphoserine-phosphatase. Planitzer SA, et al. Gene, 1998 Apr 14. PMID 9573387
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deletion of PSPHL does not contribute to breast cancer in African American women.
      Title: PSPHL and breast cancer in African American women: causative gene or population stratification?
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Other Names

    • L-3-phosphoserine-phosphatase homolog
    • testicular tissue protein Li 154

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009001.3 

      Range
      101..8987
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      55764797..55773683
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      55925055..55933941
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_003832.1: Suppressed sequence

      Description
      NM_003832.1: This RefSeq was permanently suppressed because this locus is considered to be a pseudogene.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15172.1 GenPept UniProtKB/Swiss-Prot:O15172

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.